Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
[oculocutaneous albinism]
Hermansky-
Pudlak
syndrome
(
HPS
)
is
an
autosomal
recessive
and
genetically
heterogeneous
disorder
characterized
by
oculocutaneous
albinism
,
bleeding
tendency
,
and
ceroid
deposition
,
which
likely
leads
to
deleterious
lesions
in
lungs
,
heart
,
and
other
organs
.
Currently
,
nine
genes
have
been
identified
as
causative
for
HPS
in
humans
.
Their
pathological
effects
are
attributable
to
the
disrupted
biogenesis
of
lysosome-related
organelles
(
LROs
)
existing
in
multiple
cell
types
or
tissues
,
causing
the
pigmentory
and
non-pigmentory
defects
.
This
review
focuses
on
the
functional
aspects
of
HPS
genes
in
regulating
LRO
biogenesis
and
signal
transduction
.
The
understanding
of
these
mechanisms
expands
our
knowledge
about
the
involvement
of
lysosomal
trafficking
in
the
targeting
of
cargoes
for
constitutive
transport
,
degradation
,
and
secretion
.
This
opens
an
avenue
to
the
pathogenesis
of
lysosomal
trafficking
disorders
at
the
cellular
and
developmental
levels
.